rs143947056

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	3	Carrier of a Sanfilippo syndrome type A mutation
(G;G)	0	common in clinvar

Make rs143947056(A;A)

Reference

GRCh38.p7 38.3/149

Chromosome

17

Position

80212143

Gene

SGSH

is a	snp
is	mentioned by
dbSNP	rs143947056
dbSNP (classic)	rs143947056
ClinGen	rs143947056
ebi	rs143947056
HLI	rs143947056
Exac	rs143947056
Gnomad	rs143947056
Varsome	rs143947056
LitVar	rs143947056
Map	rs143947056
PheGenI	rs143947056
Biobank	rs143947056
1000 genomes	rs143947056
hgdp	rs143947056
ensembl	rs143947056
geneview	rs143947056
scholar	rs143947056
google	rs143947056
pharmgkb	rs143947056
gwascentral	rs143947056
openSNP	rs143947056
23andMe	rs143947056
SNPshot	rs143947056
SNPdbe	rs143947056
MSV3d	rs143947056
GWAS Ctlg	rs143947056

Max Magnitude

3

ClinVar
Risk	rs143947056(A;A)
Alt	rs143947056(A;A)
Reference	Rs143947056(G;G)
Significance	Pathogenic
Disease	not provided Mucopolysaccharidosis
Variation	info
Gene	SGSH
CLNDBN	not provided Mucopolysaccharidosis, MPS-III-A
Reversed	0
HGVS	NC_000017.10:g.78185942G>A
CLNSRC
CLNACC	RCV000255725.1, RCV000409289.1,